Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

Abstract: Background: Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial. Methods: We present our systematic literature review (2001–2013) comprising 7 publications (case series/reports), collectively describing 25 patients who met the inclusion criteria, and 3 additional cases treated at our institution. Definitions were established and extracted data analyzed for cognitive ability, psychiatric and behavioral disturbances, epilepsy, and cerebral proton magnetic resonance spectroscopy measurements at pre- and post-treatment.

Link to article: https://doi.org/10.1016/j.ymgme.2014.05.011

PubMed:  https://pubmed.ncbi.nlm.nih.gov/24953403/

Authors: Mary Dunbara, Sravan Jaggumantrib, Michael Sargent, SylviaStockler-Ipsiroglu, Clara D.M.van Karnebeekbce

Key Terms: CTD, Clinical Study, MRS, Mutation Study, Supplements, Pediatric Patient